Research Summary

The common human diseases that account for the vast majority of morbidity and mortality in human populations are known to have underlying inherited components. Advances in human genetics have made the identification of genetic variants contributing to these traits feasible. Such identification promises to revolutionize the diagnostic and therapeutic approaches to these disorders. We have gone on from these starting points to use biochemistry and animal models to define the mechanisms linking genotype and phenotype. These findings have provided new insight into normal and disease biology, are identifying new pathways underlying disease pathogenesis, and are identifying new targets for development of novel therapeutics.

Specialized Terms: Molecular genetics of common human diseases

Extensive Research Description

By investigation of rare families recruited from around the world with extreme phenotypes suggesting genetic causation, we have identified genes that cause to these traits, putting a molecular face on their pathogenesis. In 2009 we reduced to practice the rapid and inexpensive sequencing of all genes in the genome and have used this platform for discovery of rare mutations with large effect in cardiovascular disease, cancer, kidney disease, skin disease and immunologic disease. These studies have revealed new pathways and mechanisms that regulate metabolic traits including blood pressure, bone mass, and electrolyte homeostasis, and genes that when mutated cause diverse diseases including heart attacks, strokes, kidney disease, cancer, autoinflammatory disease, skin disease and congenital heart disease. These studies have defined new strategies for disease gene discovery and point to the opportunity to determine the consequence of mutation of every gene in the human genome.

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